Mammographic Density and Estrogen Receptor α Gene Polymorphism in Javanese Women

https://doi.org/10.19106/JMedSci004902201704

Lina Choridah(1*), Teguh Aryandono(2), Arif Faisal(3), Ahmad Hamim Sadewa(4), Dewajani Purnomosari(5)

(1) Department of Radiology, Faculty of Medicine Universitas Gadjah Mada
(2) Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia
(3) Department of Radiology, Faculty of Medicine Universitas Gadjah Mada
(4) Department of Biochemistry,Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia
(5) Department of Histology/Molecular Biology, Faculty of Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia
(*) Corresponding Author

Abstract


Estrogen plays important roles in breast cancer as it binds its receptor in breast tissue. The most studied variants in estrogen receptor α encoded by ESR1 gene are the ESR1 PvuII and XbaI polymorphisms, which were associated with lower sensitivity to estrogen. We determined the proportion of ESR1 XbaI and PvuII polymorphisms in Javanese woman in Yogyakarta, Indonesia and analyzed the correlation between genetic variations with mammogram density. ESR1 XbaI and PvuII polymorphisms of 50 cases and 58 controls were identified using PCR-RFLP. Breast density was assessed based on digitizer mammograms. Quantitative analysis was performed using an interactive program based on cumulus of two thresholds. Mean of density and frequencies of SNPs were compared between cases and controls to identify the association between SNPs and cancer susceptibility. Mammographic density was significantly higher in cases (52%) than controls (0.41%) (p < 0.05). Women with one or two copies of the PvuII T allele and XbaI A allele had higher mammographic density compared with women with C and G alleles, respectively. The proportion between PP and TT genotype was not statistically significant (p > 0.05), while the proportion between AA and GG was significantly different (p < 0.05). Haplotype 2 (CG/PX) was associated with lower sensitivity to estrogen and reflects a decrease of mammographic density. These findings were consistent with other studies that showed that ESR1 polymorphisms may affect breast cancer risk through differences in breast density. 


Keywords


Breast cancer, DNA polymorphism, ESR1 PvuII, ESR1 XbaI, Mammogram Digitizer

Full Text:

PDF


References

American Cancer Society. Can Breast Cancer Be Found Early? American Cancer Society, 2010 Ghozali A. Registrasi kanker. Proceedings of Seminar Onkologi Yayasan Kanker Indonesia. 2009 Gruber CJ, Walter T, Schneeberger and Johanner HS. Mechanism of disease: production and actions of estrogens. NEJM 2002; 346:340-52 Boyd NF, Byng JW, Jong RA, et al. Quantitative Classification of Mammographic Densities and Breast Cancer Risk: Results from the Canadian National Breast Screening Study. Journal of the National Cancer Institute 1995; 87(9): 670-75 Persson I, Thurfjell E, Holmberg L. Effect of estrogen and estrogen-progestin replacement regimens on mammographic breast parenchymal density. J Clin Oncol 1997; 15(10):3201-07 Greendale GA, Reboussin BA, Slone S, Wasilauskas C, Pike MC, Ursin G. Postmenopausal hormone therapy and change in mammographic density. J Natl Cancer Inst 2003; 95:30–37 Cuzick J, Warwick J, Pinney E, Warren RM, Duffy SW. Tamoxifen and breast density in women at increased risk of breast cancer. J Natl Cancer Inst 2004; 96:621– 28 Ding H, Fu Y, Chen W, Wang Z. COMT Val158Met polymorphism and breast cancer risk: evidence from 26 case–control studies. Breast Cancer Res Treat 2010; 123:265–70 Boroumand M, Ghaedi M, Mohammadtaghvaei N, et al. Lipid profile and inflammatory markers associated with estrogen receptor a PvuII and XbaI gene polymorphisms. Translational Research 2009; 153:6 Cancer Research UK. Breast Cancer-UK [online]. 2011. Available from: URL: http://www.cancerresearchuk.org/cancer-info/cancerstats/types/breast/incidence/uk-breast-cancer-incidence -statistics#age Leong SPL, Shen ZZ, Liu TJ, Agarwal G, Tajima T, Paik NS, et al. Is breast cancer the same disease in Asian and Western Countries? World J Surg 2010; 34:2308–24 Yaffe, JM. Measurement of mammographic density. Breast Cancer Res 2008; 10: 209-18 Boyd NF, Guo H, Martin LJ, Sun L, Stone J, Fishell E, et al. Mammographic density and the risk and detection of breast cancer. N Engl J Med 2007; 356:227–36 Takata Y, Mascarinec G, Le Marchand L. Breast density and polymorphisms in genes coding for CYPA2*1F and COMT. BMC Cancer 2007;7:30 Martin LJ, Boyd NF. Potential mechanisms of breast cancer risk associated with mammographic density: hypotheses based on epidemiological evidence. Breast Cancer Research 2008; 10:201 Slattery ML, Sweeney C, Herrick J, Wolff R, Baumgartner K, Giuliano A, et al. ESR1, AR, body size, and breast cancer risk in Hispanic and non-Hispanic white women living in the Southwestern United States. Breast Cancer Res Treat 2007; 105:327–35 Crandal CJ, Sehl ME, Crawford SL, et al. Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women. Breast Cancer Research 2009; 11:R51 van Duijnhoven FJB, Bezemer ID, Peeters PHM. Polymophism in the estrogen receptor α gene and mammographic density. Cancer Epidemiol Biomarkers Prev 2005; 14:2655-60.



DOI: https://doi.org/10.19106/JMedSci004902201704

Article Metrics

Abstract views : 2162 | views : 2134


Bookmark and Share


Copyright (c) 2017 Lina Choridah, Teguh Aryandono, Arif Faisal, Ahmad Hamim Sadewa, Dewajani Purnomosari

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

View My Stats

 

Creative Commons License
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) by  Universitas Gadjah Mada is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.